Canonical Allele Identifier: PA2828059271
Gene: TSC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Asp152Glu
CA039098
NM_001362177.1:c.456T>G
CA375369393
NM_001362177.1:c.456T>A